Is CD36 p.Thr111fs (c.332_333del) pathogenic?

CD36 p.Thr111fs (c.332333del) is classified Pathogenic/Likely pathogenic in CD36 (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-04-29). Rare (popmax 0.861%, eas); Associated with CD36-related disorder.

What condition is associated with CD36 p.Thr111fs (c.332_333del)?

CD36 p.Thr111fs (c.332_333del) is associated with CD36-related disorder, platelet-type bleeding disorder 10, coronary heart disease, susceptibility to, 7 (ClinVar).

How common is CD36 p.Thr111fs (c.332_333del) in the general population?

CD36 p.Thr111fs (c.332_333del) is rare (popmax 0.861%, eas) (gnomAD).

CD36 p.Thr111fs

c.332_333del · rs572295823 · VCV225309

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

rare (popmax 0.861%, eas)

Conditions

CD36-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 5 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.002	GERP -3.5
Overall
CADD	21.8	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.861% East Asian · 386/44,842 alleles

Filtering AF 0.79% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.762%

Overall 0.0253% 409/1,614,030 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.861%	116
Remaining individualsnot grpmax-eligible	0.0304%	3,290
South Asian	0.0022%	45,542
Admixed American	0.00167%	60,022
European (non-Finnish)	8.48e-05%	1,179,889

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CD36
Protein: p.Thr111fs
Coding: c.332_333del
MANE Select: NM_001001548
dbSNP: rs572295823
Type: Microsatellite
Location: chr7:80661110 (GRCh38)
Gene constraint: LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 94.14 · 1 PDB
Residue 111: a β-strand; the 'required for interaction with thrombospondins, thbs1 and thbs2' region

Full CD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CD36-related disorder

Also linked: platelet-type bleeding disorder 10 coronary heart disease, susceptibility to, 7 malaria, susceptibility to

Similar variants

CD36 p.Ser113fs Uncertain significance ★★ same condition
CD36 p.Lys472fs Conflicting classifications of pathogenicity ★ same condition
CD36 c.120+399TG[8] Likely benign ★ same condition
CD36 c.1254+1G>A Likely pathogenic ★★ same condition
CD36 c.430-2A>G Likely pathogenic ★★ same condition
CD36 p.Cys243Ter Pathogenic ★★ same condition
CD36 p.Gln262fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Ile317fs Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cd36-p-thr111fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown